E-resources
Peer reviewed
-
Natera-de Benito, D.; Töpf, A.; Vilchez, J.J.; González-Quereda, L.; Domínguez-Carral, J.; Díaz-Manera, J.; Ortez, C.; Bestué, M.; Gallano, P.; Dusl, M.; Abicht, A.; Müller, J.S.; Senderek, J.; García-Ribes, A.; Muelas, N.; Evangelista, T.; Azuma, Y.; McMacken, G.; Paipa Merchan, A.; Rodríguez Cruz, P.M.; Camacho, A.; Jiménez, E.; Miranda-Herrero, M.C.; Santana-Artiles, A.; García-Campos, O.; Dominguez-Rubio, R.; Olivé, M.; Colomer, J.; Beeson, D.; Lochmüller, H.; Nascimento, A.
Neuromuscular disorders : NMD, December 2017, 2017-Dec, 2017-12-00, 20171201, Volume: 27, Issue: 12Journal Article
•Molecular genetic and clinical findings of 64 genetically confirmed CMS patients.•Overview on relative frequencies of different subtypes in Spanish population.•Thirty-six different mutations were identified, with 6 of them not reported so far.•Phenotypes associated with the different CMS genes are described. Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, accounting for 27% of the total. The second most common are RAPSN mutations. We found a higher rate of GFPT1 mutations in comparison with other populations. Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management.
Author
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.